Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).
[cohen syndrome]
Here
we
report
on
a
de
novo
apparently
balanced
reciprocal
5
q
;
7
p
translocation
in
a
15
-
year
-old
girl
with
apparent
Cohen
syndrome
characterized
by
hypotonia
,
obesity
,
multiple
congenital
anomalies
,
and
mental
retardation
.
This
case
may
indicate
that
the
gene
for
Cohen
syndrome
is
at
5
q
33
.
1
or
7
p
15
.
1
.
Diseases
Validation
Diseases presenting
"obesity"
symptom
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
carcinoma of the gallbladder
cohen syndrome
congenital adrenal hyperplasia
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
heparin-induced thrombocytopenia
kabuki syndrome
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
sneddon syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated